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1.
This paper documents the first reported case of fucosidosis in a cat. The cat presented with signs of forebrain and cerebellar dysfunction and a magnetic resonance imaging scan of the brain suggested a degenerative or metabolic disease process. A fine needle aspirate of grossly normal lymph nodes revealed vacuolated lymphocytes and a renal biopsy of an irregular shaped kidney identified vacuolated tubular epithelial cells. A white cell lysosomal enzyme screen revealed negligible α-fucosidase activity. Fucosidosis should be considered in the differential diagnosis of young cats with cerebellar dysfunction and must be added to the list of lysosomal storage diseases affecting the cat.  相似文献   

2.
Mannosidosis was diagnosed in four stillborn Galloway calves and an autolyzed full-term fetus from experimental matings of carrier animals. Gross lesions were moderate internal hydrocephalus, and pallor and enlargement of the liver and kidneys and arthrogryposis. Histologic changes in the central nervous system of each calf were marked foamy vacuolation of the cytoplasm of neurones in the cerebral cortex, thalamus and brainstem, and vacuolation of the Purkinje cells of the cerebellum. Spheroids were common throughout the brain and there was also consistent severe foamy cytoplasmic vacuolation of renal tubular epithelial cells and hepatocytes. The activities of alpha-mannosidase, the lysosomal enzyme whose activity is deficient in mannosidosis, and activities of five other lysosomal enzymes were compared in brain, liver, and kidney tissues of three mannosidosis-affected calves and normal calf tissues. Tissues from the affected calves had a marked deficiency of alpha-mannosidase activity compared with the normal tissues; the greatest deficiency was in the liver (99%) and brain (98%). Activities of the other lysosomal enzymes were elevated in the affected tissues compared with normal. Mannosidosis is a lysosomal storage disease that results from a defect in glycoprotein metabolism and affects man, Angus and Angus-related breeds of cattle, such as Murray greys, and the cat. The congenital disease is caused by an inherited deficiency of the lysosomal enzyme alpha-mannosidase, and is inherited in an autosomal recessive manner. Mannosidosis was recently reported in a number of aborted and stillborn Australian Galloway calves from an experimental breeding trial. This is more detailed account of the histological and biochemical results obtained during the trial.  相似文献   

3.
Mucolipidosis type II in a domestic shorthair cat   总被引：1，自引：0，他引：1  
A seven-month-old, female domestic shorthair cat was presented to the Veterinary Teaching Hospital, University of Zurich, with abnormal facial features, retarded growth and progressive hindlimb paresis. On physical examination the cat had a flat, broad face with hypertelorism, frontal bossing, small ears and thickened upper and lower eyelids. The corneas of both eyes were clear and the pupils were dilated. The skin was generally thickened, most prominently on the dorsal aspect of the neck. Radiography of the entire skeleton revealed a severely deformed spinal column, bilateral hip luxation with hip dysplasia, an abnormally shaped skull and generalised decreased bone opacity. The clinical features and radiographic changes were suggestive of mucopolysaccharidosis. The toluidine blue spot test on a urine sample, however, was negative for glycosaminoglycans. Further biochemical investigations revealed a deficiency of the enzyme N-acetylglucosamine-1-phosphotransfer-ase (GlcNAc-phosphotransferase, EC 2.7.8.17) in peripheral leukocytes and an elevation of many lysosomal enzymes in the serum of the cat which is diagnostic for mucolipidosis type II. Histology and electron microscopy of different tissues are briefly summarised. The findings of this cat, the first reported case of mucolipidosis type II are compared with other similar storage diseases described in the cat.  相似文献   

4.
Sphingomyelin lipidosis in a cat   总被引：2，自引：0，他引：2  
A 7-month-old Balinese cat with progressive neurological dysfunction had histopathological lesions of brain, liver, kidney, spleen, and lung consistent with a lysosomal storage disease. Ultrastructural examination revealed lysosomal hypertrophy with membranous inclusions. Hepatic sphingomyelin and cholesterol were elevated 10 times normal, and total phospholipids were increased 3.6 fold. Sphingomyelinase activity measured with 14C labeled sphingomyelin at pH 5.0 was virtually absent in brain and liver. Other lysosomal hydrolase activities were normal or elevated. Clinical, morphological, and biochemical findings suggest that this cat had sphingomyelin lipidosis similar to human Niemann-Pick disease type A, and that feline sphingomyelin lipidosis provides another model of human lysosomal storage disease.  相似文献   

5.
Alpha-mannosidosis in a Persian cat   总被引：2，自引：0，他引：2  
Alpha-mannosidosis, an inherited enzyme-deficiency disease, caused growth retardation, hepatomegaly, ocular abnormalities, and neurologic dysfunction in a Persian cat. Because of the clinical progression of this autosomal recessive, lysosomal storage disorder, the cat was euthanatized at 5 months of age.  相似文献   

6.

Background

Mucopolysaccharidoses (MPS) are common lysosomal storage disorders causing typically progressive skeletal and ocular abnormalities.

Objectives

To describe the clinic features, metabolic profile and a unique mutation in a domestic shorthair (DSH) kitten with MPS VII.

Animals

Affected kitten and 80 healthy cats.

Methods

Serum lysosomal enzyme activities and urinary glycosaminoglycan (GAG) accumulation were assessed. Exons of the β‐glucuronidase gene (GUSB) were sequenced from genomic DNA and genotyping was conducted.

Results

A 3‐month‐old DSH cat was presented for stunted growth, paresis, facial dysmorphia, multiple skeletal deformities, and corneal opacities. Evaluation of blood smears disclosed metachromatic granules in leukocytes and a urinary mucopolysaccharide spot test was positive. The proband had no GUSB activity but normal or increased activities for other lysosomal enzymes. Sequencing of the GUSB gene from the proband and comparison to the sequence of 2 healthy cats and the published feline genome sequence demonstrated 2 unique single base transitions (c.1421T>G and c.1424C>T) in exon 9, altering 2 adjacent codons (p.Ser475Ala and p.Arg476Trp). These amino acid changes are in a highly conserved domain of the GUSB protein and nontolerable to maintain function. Moreover, the p.Arg476Trp mutation previously has been identified in human patients. None of the other clinically healthy cats had these mutations.

Conclusions and Clinic Importance

The diagnostic approach to MPS disorders is delineated. This is only the second mutation known to cause MPS VII in cats. Similarly, 2 different mutations have been described in MPS VII dogs, thereby showing the molecular heterogeneity of MPS VII in companion animals.  相似文献   

7.
GM2 gangliosidosis variant 0 (human Sandhoff disease) is a lysosomal storage disease caused by simultaneous deficiencies of acid beta-hexosaminidase (Hex) A and Hex B due to an abnormality of beta-subunit, a common component in these enzyme molecules, which is coded by the HEXB gene. In the present study, a retrospective diagnosis was performed in 2 previous suspected cases of feline Sandhoff-like disease using a DNA test to detect the causative mutation identified previously in 4 cats in 2 other families of Japanese domestic cats. Enzymic analysis was also performed using stored leukocytes and plasma collected from the subject families in order to investigate the usefulness of enzymic diagnosis and genotyping of carriers. The DNA test suggested that the 2 cases were homozygous recessive for the mutation. Consequently, 6 cats homozygous for the same mutation have been found in 4 separate locations of Japan, suggesting that this mutant allele may be spread widely in the Japanese domestic cat populations. In enzymic analysis, Hex A and Hex B activities in leukocytes and plasma measured using 4-methylumbelliferyl N-acetyl-beta-D-glucosaminide as a substrate were negligible in affected cats, compared with those in normal and carrier cats. However, there was a wide overlap in enzyme activity between normal and carrier cats. Therefore, it was concluded that enzymic analysis is useful for diagnosis of affected cats, but is not acceptable for genotyping of carriers.  相似文献   

8.
A male Japanese domestic cat with retarded growth in Hokkaido, Japan, showed progressive motor dysfunction, such as ataxia starting at 3 months of age and tremors, visual disorder and seizure after 4 months of age. Finally, the cat died of neurological deterioration at 9 months of age. Approximately half of the peripheral blood lymphocytes had multiple abnormal vacuoles. Magnetic resonance imaging showed bisymmetrical hyperintensity in the white matter of the parietal and occipital lobes in the forebrain on T2-weighted and fluid-attenuated inversion recovery images, and mild encephalatrophy of the olfactory bulbs and temporal lobes. The activity of lysosomal acid β-galactosidase in leukocytes was negligible, resulting in the biochemical diagnosis of GM1 gangliosidosis. Histologically, swollen neurons characterized by accumulation of pale, slightly granular cytoplasmic materials were observed throughout the central nervous system. Dysmyelination or demyelination and gemistocytic astrocytosis were observed in the white matter. Ultrastructually, membranous cytoplasmic bodies were detected in the lysosomes of neurons. However, genetic analysis did not identify the c.1448G>C mutation, which is the single known mutation of feline GM1 gangliosidosis, suggesting that the cat was affected with a new variant of the feline disease.  相似文献   

9.
Fecal proteolytic activity determined in single samples collected on each of 3 consecutive days from each of 20 clinically normal cats ranged from 19 to 363 azocasein units (ACU)/g of feces when determined colorimetrically, using azocasein substrate, and ranged from undetectable (in 1 sample from 1 cat) to 21 mm of gel-clearing when determined using radial enzyme diffusion in agar gels containing a casein substrate. Corresponding mean 3-day values for each cat ranged from 29 to 207 ACU/g and from 5 to 16 mm, respectively. Studies of proteolytic activity remaining after treatment of fecal extracts with a specific trypsin inhibitor indicated that trypsin accounted for 0 to 77% of proteolytic activity. In a cat with exocrine pancreatic insufficiency, fecal proteolytic activity was 0, 0, and 3 ACU/g in a sample of feces collected from each of 3 consecutive days and was undetectable by use of radial enzyme diffusion. Assay of fecal proteolytic activity by use of either azocasein hydrolysis or radial enzyme diffusion allows evaluation of pancreatic function in cats, provided that several samples of feces are tested.  相似文献   

10.
A 14-year-old neutered female cat was presented for the investigation of aggression and male-type behaviour. Bilateral adrenal enlargement together with elevated plasma concentrations of oestradiol and testosterone were identified, with no evidence of hypercortisolaemia. These findings are similar to the syndrome of hyperadrenocorticism recognised most commonly in ferrets. The cat was treated for six months with the enzyme inhibitor drug, trilostane, and showed a moderate improvement in clinical signs.  相似文献   

11.
A 13-year-old female spayed domestic shorthair cat presented for investigation of decreased appetite and increased serum liver enzyme concentrations. An abdominal ultrasound revealed multiple sessile hyperechoic structures along the luminal aspect of the gall bladder wall and a mildly enlarged liver with hyperechoic nodules. Cholecystectomy was performed and biopsies were obtained by laparotomy. Histopathologic examination with immunohistochemistry was consistent with a diagnosis of small-cell lymphoma of T cells within the gall bladder, liver and small intestine. Clonality testing confirmed the diagnosis. The cat remains clinically stable 23 months after institution of treatment with prednisolone, chlorambucil and ursodeoxycholic acid. This is the first report of small-cell lymphoma in the gall bladder of a cat.  相似文献   

12.
Xanthine urolithiasis was found in a 4-year-old spayed female Himalayan cat with a 10-month history of intermittent haematuria and dysuria. Ultrasonographs indicated the existence of several calculi in the bladder that were undetectable by survey radiographic examination. Four bladder stones were removed by cystotomy. The stones were spherical brownish-yellow and their surface was smooth and glossy. Quantitative mineral analysis showed a representative urolith to be composed of more than 95% xanthine. Ultrasonographic examination of the bladder 4.5 months postoperatively indicated the recurrence of urolithiasis. Analysis of purine concentration in urine and blood showed that the cat excreted excessive amounts of xanthine. In order to test the hypothesis that xanthinuria was caused by a homozygote of the inherited mutant allele of a gene responsible for deficiency of enzyme activity in purine degradation pathway, the allele composition of xanthine dehydrogenase (XDH) gene (one of the candidate genes for hereditary xanthinuria) was evaluated. The cat with xanthinuria was a heterozygote of the polymorphism. A single nucleotide polymorphism analysis of the cat XDH gene strongly indicated that the XDH gene of the patient cat was composed of two kinds of alleles and ruled out the hypothesis that the cat inherited the same recessive XDH allele suggesting no activity from a single ancestor.  相似文献   

13.
A 12-year-old, neutered male domestic shorthair cat was evaluated with a life-long history of intermittent, predominantly small bowel diarrhea and a 3 day history of hematochezia. At presentation, the cat had increased liver enzyme activities and an inflammatory leukogram. Histopathology demonstrated inflammatory bowel disease (IBD), cholangiohepatitis and pancreatitis. The cholangiohepatitis was associated with a multi-drug resistant Enterococcus faecium. Gallbladder agenesis was also documented. Treatment with vancomycin was safely instituted for 10 days. Clinical signs resolved, however, cure of the bacterial cholangiohepatitis was not achieved. The risk of vancomycin resistant enterococci (VRE) in human and veterinary medicine is discussed.  相似文献   

14.
The enzyme rhodanese (EC 2.8.1.1) is an ubiquitous enzyme which is present in all living organisms, from bacteria to man. It is speculated that this enzyme plays a central role in cyanide detoxification. However, its wide tissue distribution suggests this enzyme might perform other functions beside cyanide detoxification. Although the distribution of rhodanese in different tissues of human and domestic animals has been studied, little is known about the pattern of distribution and physiological roles of this enzyme in the cat. The purpose of this investigation was to determine the enzyme levels and compare the distribution of this enzyme in different tissues of the cat. A selection of tissue samples was assayed for rhodanese activity. The protein content of tissue extracts and enzymatic activities were calculated as units per gram tissue and units per milligram protein of the tissue. Results showed that in terms of units per milligram protein of the tissue (specific activity of the enzyme), colon and rectum mucosal layers and testis were the richest sources of the enzyme followed by ovary, mucosal layer of jejunum and liver. With respect to units/gram tissue, liver followed by testis, colon and rectum mucosal layers, ovary and mucosa of jejunum exhibited highest activities. The results of this study will allow one to speculate on the involvement of rhodanese in several biochemical and physiological functions in different tissues and organs of this species.  相似文献   

15.
This case report describes the disease progression of a male cat with pericardial effusion. Clinical signs (dyspnea, lethargy, and weakness) started very acutely. The initial laboratory profile showed only an increase in alanine aminotransferase enzyme activity. Diagnostic imaging revealed pericardial effusion. Effusion analysis showed a Rivalta-positive, modified transudate. Detection of feline coronavirus antigen in macrophages was negative. General condition and laboratory parameters dramatically worsened within seven days. Therefore, the owners decided to euthanize the cat. Even if effusion variables are macroscopically and microscopically suspicious for FIP, a definitive diagnosis of FIP could only be made by histology (including immunhistochemical staining).  相似文献   

16.
A 2-year-old, castrated, male European Shorthair cat was presented with inappetence, vomiting, and fever. Ascites and an irregularly nodular liver were observed on laparotomy; in view of the poor prognosis, the animal was euthanatized. Histopathologic examination of the liver showed a chronic hepatitis with cirrhosis associated with massive accumulation of copper in hepatocytes and macrophages, particularly in the fibrotic areas between the regenerative nodules. Electron microscopy and energy-dispersive X-ray analysis revealed lysosomal accumulation of copper in the hepatocytes. Analytical determination showed very high copper concentrations in the liver. No evidence for increased dietary or environmental copper could be found. This and the pattern of hepatic copper storage, the associated inflammation and fibrosis, strongly suggest a primary copper storage disorder.  相似文献   

17.
Arginase (EC 3.5.3.1), the final enzyme in the urea cycle, catalyses the hydrolysis of l-arginine to l-ornithine and urea. High activity of this enzyme in the liver indicates its primary role in ammonia detoxification. However, its wide tissue distribution suggests that this enzyme might perform other functions besides hepatic ureagenesis. Although the distribution and properties of arginase from many tissues of human, laboratory animals and some domestic animals have been studied, little is known about the pattern of distribution and physiological roles of this enzyme in the cat. The purpose of this study was to examine and compare the distribution of arginase in different tissues of the cat. A selection of tissue samples was assayed for arginase by the diacetyl monoxime method of determination of enzymatically formed urea. The protein content of tissues and enzymatic activities were calculated as units per gram tissue and units per milligram protein of the tissue. Results showed that the liver was the richest source of arginase followed by the oesophageal and tongue mucosal layers. Significant activity of this enzyme was found in the mucosa of the small intestine, kidney cortex, lung, testis and ovary. The results of this study will be discussed in terms of the involvement of arginase in several biochemical and physiological functions in this species.  相似文献   

18.
An 18 month-old, intact female American Shorthair cat was presented for evaluation of stunted growth and postprandial depression. Fasting serum ammonia and serum bile acid concentrations were above reference ranges at 396 microg/dl and 6.5 micromol/ l and their postprandial concentrations were 785 microg/dl and 9.5 micromol/l, respectively. The initial tentative diagnosis of a portosystemic shunt was excluded by mesenteric portography and histopathology of the liver. The cat was then suspected of a urea cycle enzyme deficiency and its urine was analyzed by gas chromatography-mass spectrometry. A presumptive diagnosis of ornithine transcarbamylase deficiency was made on the basis of the detection of orotic acid and uracil.  相似文献   

19.
Caprine β-mannosidosis, a fatal inherited deficiency of the lysosomal enzyme β-mannosidase, was diagnosed in neonatal female Nubian crossbred twin kids from a small herd near Guelph, Ontario. The kids had been tetraplegic since birth, with whole body tremors, abnormal nystagmus and an intention tremor of the head.  相似文献   

20.
This case report documents clinical and molecular findings in two littermate kittens of the Japanese domestic cat with GM2 gangliosidosis variant 0. Analysis included detailed physical, magnetic resonance imaging, biochemical, pathological and genetic examinations. At first, these littermate kittens showed typical cerebellar signs at approximately 2 months of age. About 2 months later, they progressively showed other neurological signs and subsequently died at about 7 months of age. Magnetic resonance imaging just before the death showed an enlarged ventricular system, T1 hyperintensity in the internal capsule, and T2 hyperintensity in the white matter of the whole brain. Histological findings suggested a type of lysosomal storage disease. Biochemical studies demonstrated that the kittens were affected with GM2 gangliosidosis variant 0, and a DNA assay finally demonstrated that these animals were homozygous for the mutation, which the authors had identified in a different family of the Japanese domestic cat. The findings in the present cases provide useful information about GM2 gangliosidosis variant 0 in Japanese domestic cats.  相似文献   

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